Table 1. Segregating Sites and Diversity in the Disease Cohorts.

Cohort	Chromosome	Missense	Nonsense	Silent	Intronic	UTR	Splice	Total	π* (per bp)	θW*(per bp)
ASD (N = 102)	Autosome	574	3	772	1,870	69	1	3,289	4.84×10−4	3.58×10−4
	X Chrom	124	1	153	508	40	0	826	3.35×10−4	3.19×10−4
	Total	698	4	925	2,378	109	1	4,115	4.39×10−4	3.47×10−4
SCZ (N = 138)	Autosome	614	6	818	1,722	70	0	3,230	4.45×10−4	3.54×10−4
	X Chrom	164	2	171	536	41	0	914	3.58×10−4	3.10×10−4
	Total	778	8	989	2,258	111	0	4,144	4.19×10−4	3.41×10−4
S2D (N = 240)	Autosome	891	9	1,066	2,169	85	1	4,221	5.23×10−4	3.48×10−4
	X Chrom	220	2	228	675	50	0	1,175	3.96×10−4	3.18×10−4
	Total	1,111	11	1,294	2,844	135	1	5,396	4.84×10−4	3.39×10−4
QNTS Control (N = 240)	Autosome	108	0	103	217	5	1	434	4.72×10−4	6.41×10−4
	X Chrom	18	1	7	14	5	0	45	7.18×10−5	1.08×10−4
	Total	126	1	110	231	10	1	479	2.72×10−4	3.75×10−4

π is mean pair-wise nucleotide diversity across all samples; θ_W is Watterson's mutation rate estimator based on the number of segregating sites.

*Estimates were determined for each gene and then averaged across all genes.